Neurology
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Ullrich congenital muscular dystrophy (UCMD) is a form of merosin-positive congenital muscular dystrophy characterized by proximal contractures, distal laxity, rigidity of the spine, and respiratory complications. Recently, a deficiency of collagen VI on muscle and skin biopsy together with recessive mutations in the collagen 6A2 gene were reported in three families with UCMD. However, the clinical spectrum, frequency, and level of heterogeneity of this disorder are not known. ⋯ These results suggest that collagen VI involvement is relatively common in UCMD (40%); however, the role of this molecule was excluded in a number of cases, suggesting genetic heterogeneity of this condition.
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Supratentorial intracerebral hematomas often are evacuated in rapidly deteriorating patients. Surgery may prevent death but not necessarily disability. The authors studied the outcome of emergent clot evacuation in patients with worsening massive intracerebral hemorrhage. ⋯ Craniotomy for rapidly worsening patients with supratentorial intracerebral hemorrhage and radiologic signs of brain tissue shift may result in functional independence in approximately a quarter of patients. However, all comatose patients who lost upper brainstem reflexes and had extensor posturing died despite surgery.
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Review Comparative Study
Cognitive outcomes and predictive factors in epilepsy.
Although most patients with epilepsy have normal cognitive abilities, they are at increased risk for cognitive deficits. Multiple factors contribute to this risk including antiepileptic drugs (AEDs), which not only reduce neuronal irritability but may also impair neuronal excitability. The major cognitive effects of AEDs are impaired attention, vigilance, and psychomotor speed, but secondary effects on other cognitive functions can be seen. ⋯ The cognitive profile of an AED is but one factor in the selection of therapeutic options. Ongoing seizures can be detrimental to both cognition and quality of life. Patients who are refractory or intolerant to AED therapy should be referred for video EEG monitoring to confirm the seizure diagnosis and determine if the patient is a candidate for epilepsy surgery.